Incidental Mutation 'R7494:Clec12a'
ID 580982
Institutional Source Beutler Lab
Gene Symbol Clec12a
Ensembl Gene ENSMUSG00000053063
Gene Name C-type lectin domain family 12, member a
Synonyms Micl
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R7494 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 129327207-129342266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129330362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 47 (I47V)
Ref Sequence ENSEMBL: ENSMUSP00000063627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065289] [ENSMUST00000151671]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000065289
AA Change: I47V

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000063627
Gene: ENSMUSG00000053063
AA Change: I47V

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
CLECT 133 247 1.22e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000151671
AA Change: I47V

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118315
Gene: ENSMUSG00000053063
AA Change: I47V

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
SCOP:d2afpa_ 127 179 6e-8 SMART
Blast:CLECT 136 179 3e-24 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit hyperinflammatory responses following challenge with uric acid crystals (monosodium urate) or necrotic cells and after radiation-induced thymocyte killing. Homozygotes for a different null allele show increased susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 G A 11: 110,099,571 (GRCm39) T992I possibly damaging Het
Adamts10 T A 17: 33,768,352 (GRCm39) C841* probably null Het
AI661453 C T 17: 47,779,105 (GRCm39) P944S unknown Het
Als2 G A 1: 59,222,325 (GRCm39) probably null Het
Anapc2 A G 2: 25,166,376 (GRCm39) E381G possibly damaging Het
Ank3 T C 10: 69,824,756 (GRCm39) Y1142H Het
Apip A T 2: 102,922,896 (GRCm39) N238I probably benign Het
Cblc A T 7: 19,526,737 (GRCm39) V165D possibly damaging Het
Cep295nl T A 11: 118,224,758 (GRCm39) M29L probably benign Het
Dpp9 T C 17: 56,507,619 (GRCm39) Y350C probably damaging Het
Enpp2 C T 15: 54,773,554 (GRCm39) G56R probably damaging Het
Epsti1 G T 14: 78,166,194 (GRCm39) E82D probably benign Het
Eri2 C A 7: 119,385,304 (GRCm39) C399F probably damaging Het
Ern1 T C 11: 106,298,361 (GRCm39) T672A probably damaging Het
Fbxo21 T A 5: 118,138,388 (GRCm39) C445S possibly damaging Het
Folh1 G T 7: 86,368,907 (GRCm39) T740K probably damaging Het
Gapt A G 13: 110,490,262 (GRCm39) Y134H probably damaging Het
Gm19410 T C 8: 36,262,684 (GRCm39) S874P probably damaging Het
Gm2431 G A 7: 141,811,547 (GRCm39) P119L unknown Het
Gzmc G A 14: 56,469,785 (GRCm39) Q172* probably null Het
Hoxa1 C A 6: 52,134,571 (GRCm39) V211F probably damaging Het
Hyou1 G T 9: 44,300,706 (GRCm39) R925L probably benign Het
Ift70a1 A C 2: 75,810,242 (GRCm39) F614V probably damaging Het
Ilvbl A G 10: 78,414,857 (GRCm39) Y240C possibly damaging Het
Lama1 T A 17: 68,118,441 (GRCm39) F2551Y Het
Lrrtm3 A G 10: 63,924,958 (GRCm39) Y70H probably damaging Het
Naa38 T A 11: 69,287,126 (GRCm39) C69S probably damaging Het
Or12e7 T A 2: 87,287,912 (GRCm39) N134K probably damaging Het
Or2t46 T C 11: 58,472,038 (GRCm39) S123P probably damaging Het
Or8k25 A T 2: 86,243,592 (GRCm39) I268N probably benign Het
Panx3 A G 9: 37,572,608 (GRCm39) L314P probably damaging Het
Polr2f T C 15: 79,028,865 (GRCm39) probably null Het
Prkcd C A 14: 30,331,150 (GRCm39) R75L probably benign Het
Psap A C 10: 60,135,275 (GRCm39) L313F probably benign Het
Psen1 T A 12: 83,775,017 (GRCm39) C263S probably benign Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,457,261 (GRCm39) probably benign Het
Pura T A 18: 36,420,942 (GRCm39) M243K probably damaging Het
Sec16b T C 1: 157,388,369 (GRCm39) S579P probably benign Het
Septin1 T A 7: 126,814,122 (GRCm39) E338V probably damaging Het
Sgms1 A G 19: 32,107,091 (GRCm39) F255L probably benign Het
Slc4a2 A G 5: 24,637,862 (GRCm39) T353A possibly damaging Het
Smg6 T C 11: 74,820,449 (GRCm39) V240A probably benign Het
Sntg2 T G 12: 30,279,633 (GRCm39) D340A possibly damaging Het
Sun1 C T 5: 139,221,475 (GRCm39) P553S probably benign Het
Tas2r140 T C 6: 40,468,254 (GRCm39) V28A probably damaging Het
Tfcp2l1 T C 1: 118,592,686 (GRCm39) F323S probably damaging Het
Thoc2l T C 5: 104,666,284 (GRCm39) Y269H possibly damaging Het
Tpcn2 G A 7: 144,832,586 (GRCm39) T90I possibly damaging Het
Ttn A T 2: 76,720,321 (GRCm39) Y6968* probably null Het
Vmn2r44 A T 7: 8,386,122 (GRCm39) L39* probably null Het
Other mutations in Clec12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02370:Clec12a APN 6 129,331,539 (GRCm39) missense possibly damaging 0.58
R0491:Clec12a UTSW 6 129,341,016 (GRCm39) missense probably benign 0.01
R1551:Clec12a UTSW 6 129,327,384 (GRCm39) start codon destroyed probably damaging 1.00
R1827:Clec12a UTSW 6 129,330,762 (GRCm39) missense probably damaging 1.00
R1828:Clec12a UTSW 6 129,330,762 (GRCm39) missense probably damaging 1.00
R1959:Clec12a UTSW 6 129,327,444 (GRCm39) missense possibly damaging 0.91
R1961:Clec12a UTSW 6 129,327,444 (GRCm39) missense possibly damaging 0.91
R4280:Clec12a UTSW 6 129,340,892 (GRCm39) missense probably damaging 1.00
R4392:Clec12a UTSW 6 129,330,427 (GRCm39) splice site probably benign
R4658:Clec12a UTSW 6 129,331,493 (GRCm39) missense probably damaging 1.00
R4922:Clec12a UTSW 6 129,336,441 (GRCm39) missense probably damaging 1.00
R4959:Clec12a UTSW 6 129,330,628 (GRCm39) missense probably benign 0.10
R4973:Clec12a UTSW 6 129,330,628 (GRCm39) missense probably benign 0.10
R6246:Clec12a UTSW 6 129,330,733 (GRCm39) missense possibly damaging 0.84
R6450:Clec12a UTSW 6 129,330,366 (GRCm39) missense probably damaging 1.00
R8946:Clec12a UTSW 6 129,340,949 (GRCm39) missense possibly damaging 0.70
R9678:Clec12a UTSW 6 129,330,628 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- AGCGAATCCTGATGTCTTAGGATTTC -3'
(R):5'- GGCCCTTTGCAATTGATTCG -3'

Sequencing Primer
(F):5'- tggatggatggatggatg -3'
(R):5'- AGTGGGGATGATGCAACT -3'
Posted On 2019-10-17